Product Details

SNP ID
rs140490381
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:37379302 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCTGAGAATCATTGCTGCTCCCC[A/G]CAGAAACAGCTCTGCCTCCTCAAGC
Phenotype
MIM: 200350
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ACACA PubMed Links

Gene Details

Gene
ACACA
Gene Name
acetyl-CoA carboxylase alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198834.2 692 Intron NP_942131.1
NM_198836.2 692 Intron NP_942133.1
NM_198837.1 692 Intron NP_942134.1
NM_198838.1 692 Intron NP_942135.1
NM_198839.2 692 Intron NP_942136.1
XM_005257267.4 692 Intron XP_005257324.1
XM_006721853.1 692 Intron XP_006721916.1
XM_011524701.1 692 Intron XP_011523003.1
XM_011524703.1 692 Intron XP_011523005.1
XM_011524704.2 692 Intron XP_011523006.1
XM_017024553.1 692 Intron XP_016880042.1
XM_017024554.1 692 Intron XP_016880043.1
XM_017024555.1 692 Intron XP_016880044.1
Gene
C17orf78
Gene Name
chromosome 17 open reading frame 78
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321399.1 692 Missense Mutation CAC,CGC H104R NP_001308328.1
NM_173625.4 692 Missense Mutation CAC,CGC H104R NP_775896.3
XM_011524647.2 692 Missense Mutation CAC,CGC H75R XP_011522949.1
XM_011524648.2 692 Missense Mutation CAC,CGC H104R XP_011522950.1
XM_011524649.2 692 Missense Mutation CAC,CGC H104R XP_011522951.1

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